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Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay
Autophagy is required for the homeostasis of cellular material and is proposed to be involved in many aspects of health. Defects in the autophagy pathway have been observed in neurodegenerative disorders; however, no genetically-inherited pathogenic mutations in any of the core autophagy-related (AT...
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| Publicat a: | eLife |
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| Autors principals: | , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
eLife Sciences Publications, Ltd
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4786408/ https://ncbi.nlm.nih.gov/pubmed/26812546 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.12245 |
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